Infertility Genetic Counselling

Remarkable advances in the classification, diagnosis, prevention, and treatment of diseases have provided us with a new collection of more effective measures to help patients. Prevention and treatment of acquired diseases, including infectious diseases, have become easier and more effective than ever before; medical centres have become more equipped and efficient; new treatments have been devised; more useful medicines have been discovered and developed; and, most importantly, more specialists have been trained to conduct wise and centralized research for resolving patients’ problems and conditions. 

Reproductive disorders, such as recurrent miscarriage and infertility, are among the most important and complex problems that commonly affect families. In fact, about 15% of the active and productive population of society face the fear and hope of having a healthy child or living in disgust. By addressing the underlying causes and applying innovative scientific techniques, the existing procedures have opened a new way to resolve this problem much more efficiently than ever before. Considering the recent discoveries about the causes of such disorders, genetic disorders and diseases are now known as the most important factor in this regard. Studies have shown that various chromosomal abnormalities in couples and fetuses are the most common cause of miscarriage, abnormalities, and disabilities. These conditions can be easily diagnosed and tracked by using a wide range of chromosomal tests. 

The important point here is that although diagnostic and therapeutic breakthroughs have opened new insights into the treatment of infertility, they have underlain the development of some diseases in offspring with a familial history of illnesses. For example, patients with various genetic diseases do not see their future as fruitless and short-lived as in the past. Therefore, family formation and childbearing is an emerging area of research in medical sciences. On the other hand, therapeutic advances prevent the early death of infants and increase their survival rate in the next generations. As a result, future advances in genetic diagnostic measures for couples and fetuses should be able to help couples have a healthy child. 

First of all, we should know who needs genetic counselling and then effectively help them to achieve the above-mentioned objectives. Some of the cases that necessitate genetic counselling are as follows:

- Cousin marriages

- Records of genetic abnormalities in clients or their relatives 

- Records of chromosomal abnormalities in couples or their families

- Records of multiple abnormalities in live or dead children

- Abnormal responses to screening measures during pregnancy

- Severe menstrual disorders either primary or secondary

- History of recurrent miscarriage

- History of intrauterine fetal demise

- Primary or secondary infertility

Genetic counsellors employ clinical information and medical records of clients and genetic resources and software applications to provide specialized counselling and prescribe effective paraclinical and therapeutic measures in order to ensure the health of clients.

The important point is that many cases of infertility or recurrent miscarriage cannot be diagnosed and treated without a deep understanding of genetic causes. For example, chromosomal abnormalities are known to be the most common cause of miscarriage and implantation failure. Although studies have revealed that various genetic factors are involved in fertilization failure, development of medical and health services has increased life expectancy and lifespan of patients with one of the genetic disorders. Therefore, it is necessary for the medical staff of infertility centres to have more in-depth knowledge and awareness of genetic concepts. 

Development of ART procedures, such as IVF and ICSI, and remarkable advances in methods for testing genetic and chromosomal abnormalities, such as array-CGH, PCR, and FISH, have increased the possibility of early diagnosis of these diseases in the pre-implantation stage or PGD. The use of these techniques have led to the selection of healthier embryos for transfer to the uterus and reduced the need for invasive procedures during pregnancy and termination of pregnancy. In addition, they have largely reduced the cases in which termination of pregnancy was not possible due to ethical considerations in milder genetic disorders. 

Based on the notion that infertility treatments should result in the birth of a healthy infant, fundamental and propelling changes have been made in ART in infertility treatment centres. This means that in addition to considering genetic factors as one of the major causes of infertility, specialists should evaluate possible genetic abnormalities in the future offspring whose parents are carries of or afflicted with a genetic disease. Based on the principle of clinical genetics that is "action only for the sake of a healthy generation", can play a major role in achieving this goal. 

Greater knowledge and awareness of the causes of infertility and recurrent miscarriage, attention to the increased risk of fetal malformations in ART measures, and understanding the inheritance of genetic diseases not only lead to the treatment of more infertility cases but also realize the dream of many families to have a healthy child. As a result, humanity can benefit from a healthier and more dynamic generation to achieve prosperity.